Variant report

Variant	esv3428065
Chromosome Location	chr6:131052463-131055359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570953368	chr6:131052469-131052470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538259030	chr6:131052473-131052474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556973701	chr6:131052480-131052481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568883877	chr6:131052500-131052501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375447989	chr6:131052528-131052529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186053593	chr6:131052540-131052541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555717281	chr6:131052542-131052543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141136637	chr6:131052546-131052547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143638007	chr6:131052564-131052565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191380049	chr6:131052583-131052584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181127080	chr6:131052600-131052601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35131018	chr6:131052619-131052620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1497885	chr6:131052657-131052658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185989981	chr6:131052665-131052666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9402274	chr6:131052683-131052684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558038841	chr6:131052751-131052752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6927803	chr6:131052770-131052771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7453134	chr6:131052781-131052782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190548914	chr6:131052853-131052854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546451367	chr6:131052885-131052886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182778348	chr6:131052938-131052939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532106937	chr6:131052950-131052951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115678625	chr6:131052984-131052985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533559655	chr6:131053054-131053055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151032465	chr6:131053061-131053062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554980108	chr6:131053077-131053078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188778691	chr6:131053092-131053093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551273658	chr6:131053094-131053095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567900363	chr6:131053106-131053107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573380324	chr6:131053128-131053129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111538455	chr6:131053130-131053131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561646139	chr6:131053153-131053154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553654393	chr6:131053169-131053170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578255342	chr6:131053218-131053219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538987214	chr6:131053264-131053265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111787345	chr6:131053282-131053283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575669291	chr6:131053307-131053308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373683565	chr6:131053312-131053313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561057997	chr6:131053318-131053319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572656836	chr6:131053323-131053324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540061758	chr6:131053360-131053361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113310835	chr6:131053378-131053379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564806650	chr6:131053411-131053412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371615457	chr6:131053427-131053428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372441735	chr6:131053430-131053431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532338838	chr6:131053431-131053432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550529801	chr6:131053432-131053433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562392324	chr6:131053453-131053454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150218720	chr6:131053461-131053462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548266016	chr6:131053462-131053463	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Brain cancer	19584924	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131051600-131059000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:131053000-131054000	Enhancers	Ovary	ovary
3	chr6:131053600-131054000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:131053800-131054400	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links